ClinVar Miner

Submissions for variant NM_016816.4(OAS1):c.654+3A>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV003322707 SCV004027769 uncertain significance Pulmonary alveolar proteinosis with hypogammaglobulinemia 2023-07-21 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP3

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